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7/27/2019 Genetics of Indo-European Populations - The Past, The Future http://slidepdf.com/reader/full/genetics-of-indo-european-populations-the-past-the-future 1/14  Journal of Language Relationship • Вопросы языкового родства • 9 (2013) • Pp. 23–35 • © The authors, 2013 Oleg Balanovsky Vavilov Institute for General Genetics (Moscow) Olga Utevska V. N. Karazin National University (Kharkov) Elena Balanovska Research Centre for Medical Genetics (Moscow) Genetics of Indo-European populations: the past, the future * We describe our experience of comparing genetic and linguistic data in relation to the Indo European problem. Our recent comparison of the genetic variation with lexicostatistical data on North Caucasian populations identified the parallel evolution of genes and languages; one can say that history of the populations was reflected in the linguistic and the genetic mir rors. For other linguistic families one can also expect this similarity, though it could be  blurred by elite dominance and other events affecting gene and lexical pools differently. In deed, for IndoEuropean populations of Europe, in contrast with the Caucasus case, the par tial correlation indicates a more important role of geography (r = 0.32) rather than language (r = 0.21) in structuring the gene pool; though high pair correlation ( r = 0.67) between genet ics and linguistics distances allows using the lexicostatistical data as good predictors of ge netic similarity between populations. The similarity between genetics and linguistics was identified for both Y-chromosomal data (populations are clustered according to their lan guage) and mitochondrial DNA (populations are clustered according to their language group). In general, we believe that there is no single genetic marker definitively linked with the expansion of IndoEuropean populations. Instead, we are starting a new research project aiming to identify a set of markers partially linked with separate IndoEuropean groups, thus allowing partial reconstructions of the multilayer mosaic of IndoEuropean movements. Keywords: gene pool, IndoEuropean populations, Y-chromosome, correlation between ge netic and linguistic variation. The Indo-European problem from the genetic point of view Genetics n linguistics re very ifferent brnches of science n humnities; the only over lp between them is  population. Any lnguge exists within popultion which speks it cross genertions; ny gene pool exists within popultion which reprouces it cross gen ertions. However, the nture of lnguge n the nture of the gene re so ifferent tht no irect comprison of lnguge structure n genetic structure mkes sense. The only possibil ity for comprisons lies in the popultion history  , becuse both linguistics n genetics try to reconstruct this history from lnguge structure or genetic structure. One shoul not expect tht popultion histories tol by genetics n linguistics coincie; one might expect tht both genetics n linguistics tell something truthful bout popultion history. Keeping this in min, we briefly escribe our experience of compring genetic n linguistic t, prticulrly in the cse of InoEuropen populations .  * This work has been supported by The Presidium of RAS programs: “Molecular and cell biology”, “Funda mental sciences for the medicine”, “Gene pool dynamics”, and RFBR grants 130401711, 120431732.

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Page 1: Genetics of Indo-European Populations - The Past, The Future

7/27/2019 Genetics of Indo-European Populations - The Past, The Future

http://slidepdf.com/reader/full/genetics-of-indo-european-populations-the-past-the-future 1/14

 Journal of Language Relationship • Вопросы языкового родства • 9 (2013) • Pp. 23–35 • © The authors, 2013

Oleg BalanovskyVavilov Institute for General Genetics (Moscow)

Olga UtevskaV. N. Karazin National University (Kharkov)

Elena BalanovskaResearch Centre for Medical Genetics (Moscow)

Genetics of Indo-European populations: the past, the future *

We describe our experience of comparing genetic and linguistic data in relation to the Indo

European problem. Our recent comparison of the genetic variation with lexicostatistical data

on North Caucasian populations identified the parallel evolution of genes and languages;

one can say that history of the populations was reflected in the linguistic and the genetic mir

rors. For other linguistic families one can also expect this similarity, though it could be

 blurred by elite dominance and other events affecting gene and lexical pools differently. In

deed, for IndoEuropean populations of Europe, in contrast with the Caucasus case, the partial correlation indicates a more important role of geography (r = 0.32) rather than language

(r = 0.21) in structuring the gene pool; though high pair correlation ( r = 0.67) between genet

ics and linguistics distances allows using the lexicostatistical data as good predictors of ge

netic similarity between populations. The similarity between genetics and linguistics was

identified for both Y-chromosomal data (populations are clustered according to their lan

guage) and mitochondrial DNA (populations are clustered according to their language

group). In general, we believe that there is no single genetic marker definitively linked with

the expansion of IndoEuropean populations. Instead, we are starting a new research project

aiming to identify a set of markers partially linked with separate IndoEuropean groups, thus

allowing partial reconstructions of the multilayer mosaic of IndoEuropean movements.

Keywords: gene pool, IndoEuropean populations, Y-chromosome, correlation between ge

netic and linguistic variation.

The Indo-European problem from the genetic point of view

Genetics n linguistics re very ifferent brnches of science n humnities; the only over

lp between them is  population. Any lnguge exists within popultion which speks it

cross genertions; ny gene pool exists within popultion which reprouces it cross gen

ertions. However, the nture of lnguge n the nture of the gene re so ifferent tht no

irect comprison of lnguge structure n genetic structure mkes sense. The only possibil

ity for comprisons lies in the popultion history , becuse both linguistics n genetics try to

reconstruct this history from lnguge structure or genetic structure.

One shoul not expect tht popultion histories tol by genetics n linguistics coincie;

one might expect tht both genetics n linguistics tell something truthful bout popultion

history. Keeping this in min, we briefly escribe our experience of compring genetic n

linguistic t, prticulrly in the cse of InoEuropen populations.

 * This work has been supported by The Presidium of RAS programs: “Molecular and cell biology”, “Funda

mental sciences for the medicine”, “Gene pool dynamics”, and RFBR grants 130401711, 120431732.

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Oleg Balanovsky, Olga Utevska, Elena Balanovska

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Discrepancy between genetic and linguistic data

Hungrins re goo exmple of the crucil iscrepncy between linguistic n genetic t.

Linguisticlly they belong to the Ugric group, which llows to hypothesize migrtion from the

TrnsUrl region (where other Ugricspeking popultions coul be foun) to the Mile

Dnube (or Gret Hungrin) plin [Szıj, 2005]. Historicl recors bout the Mgyr invsion

which gve rise to the Hungrin stte strongly support this hypothesis. Genetic (n other

nthropologicl) t show, however, tht the Hungrin gene pool hs lmost nothing in

common with the TrnsUrlic gene pool, but is very similr to the gene pools of its closest

neighbor popultions of the Blkns n Est Europe [Czeizel et l., 1991; Semino et l., 2000;

BogcsiSzbo et l., 2005; Tomory et l., 2007; Csnyi et l., 2008]. So, linguistics n history

tell tht the migrtion took plce, while genetics tells tht it i not. Shll one conclue tht

either genetics or linguistics tells completely wrong story? In this cse — certinly not. It is

generlly ccepte tht Mgyrs (Hungrins) were strong enough to mix with the previous

popultion of this region n mke them spek the Hungrin lnguge, but they were not

numerous enough to mke recorble contribution to their gene pool. This is the well known

pttern of elite dominance model: invsion with lnguge chnge, but without chnge in the

gene pool. Thus, genetics provie some informtion bout the reltive numbers of migrnts,

which ws missing in the t of other sciences. Combining linguistic, historicl n genetic

t, one cn reconstruct the popultion history in more etils thn when lcking even one of

these sources. To conclue, the iscrepncy between linguistics n genetics might yiel use

ful informtion on population history.

Coevolution of genes and languages

Without oubt, coinciing results of linguistic n genetic stuies coul tell even more

bout popultion history; fining such exmples is lwys plesnt for reserchers. Our

stuy on North Cucsin popultions [Blnovsky et l., 2011] provie the best fit pub

lishe to te. We stuie the Y-chromosoml vrition mong 10 ethnic groups ( populations)

speking North Cucsin lnguges n compre this genetic vrition with lexicosttisti

cl t on these lnguges. The 11th popultion stuie ws Irnicspeking Ossets. The

linguistic prt of this stuy ws performe by A. V. Dybo n O. A. Murk, while the ge

netic tem inclue number of reserchers, with mjor contributions from O. P. Blnov

sky n Kh. D. Dibirov.

To clrify the genetic terminology use here, the haplotype efines concrete Y-chromosoml linege n haplogroup signifies lrge group of hplotypes tht hve common origin.

Hplogroups re therefore like brnches on the fmily tree of humnkin, while hplotypes

re leves. One hplotype origintes from nother ue to muttion. Our stuy ws performe

on both levels: the level of hplogroups n the level of hplotypes.

At the level of haplogroups , four inepenent methos were use for compring genetic

n linguistic t.

First, the enrogrm tht shows the interreltions of gene pools ws compre with the

enrogrm tht represents lnguge splits. Both enrogrms virtully coincie.

Secon, genetic bounries were ientifie, subiviing the metpopultion of the Cu

csus into regionl gene pools. These genetic bounries coincie with linguistic bounries(between Dgestn n Nkh spekers; between Nkh n Irnin spekers; between Irnin

n AbkhzAyghe spekers).

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Genetics of Indo-European populations: the past, the future

25

Table 1. The correlation between genetic, linguistic and geographic distances between populations (data on the

Y-chromosome).

Type of the correlation Correlated parametersNorth Caucasian

populations

Indo-European popu-

lations (from Europe)

Pair correlation Genetics and linguistics 0.64 0.67

Pair correlation Genetics and geography 0.60 0.70

Partial correlationGenetics and linguistics (geography

held constant)0.34 0.21

Partial correlationGenetics and geography (language

held constant)0.21 0.32

These two methos revele n excellent correltion between genetics n linguistics. But

correltion oes not necessrily men cusl link: it my lso men tht both systems e

pen on thir one. This thir unerlying fctor coul be the geogrphy. To explore this pos

sibility, genetic istnces, linguistic istnces n geogrphic istnces between the sme set

of Cucsin popultions were compute, n correltion between these istnces ws clcu

lte [Blnovsky et l., 2011]. Tble 1 shows tht the correltion between genetics n geo

grphy (r = 0.60) ws lmost s high s the correltion between genetics n linguistics

(r = 0.64). When prtil correltions were compute ( sttisticl metho to exclue influence

of the thir fctor), the correltion between genetics n linguistics becme noticebly higher

(r = 0.34) thn the correltion between genetics n geogrphy (r = 0.21). This inictes tht the

linguistic structure itself correltes with the genetic structure, rther thn tht both simply e

pen on the geogrphic structure.

The fourth metho to be pplie ws n estimtion of the genetic vrition between North

Cucsin popultions, groupe in two ifferent wys. The linguistic grouping ment subi

viing the popultions into Dgestn, Nkh, Irnin, n AbkhzAyghe groups. The geo

grphic grouping ment subiviing the sme popultions into West Cucsin, Centrl Cu

csin n Est Cucsin groups. The genetic vrition between linguistic groups (0.27) ws

twice s high s the genetic vrition between geogrphic groups (0.15). One shoul conclue

tht linguistic reltionship is more importnt fctor thn geogrphic vicinity for structuring

the gene pool of North Cucsin popultions.

At the level of haplotypes we foun mny hplotype clusters present in one popultion

 but bsent or rre in ll the other popultions. These popultionspecific clusters were te

using the moleculr clock pproch. These tes estimte the time when the given popul

tion split from the relte popultions. The crucil point is tht glottochronology lso provies tes of lnguge splits, which re the sme s the splits of popultions of spekers.

Therefore, we hve this unique possibility to compre genetic tes of popultion events n

the linguistic tes of the sme events. These tes mostly coincie, s escribe in etils

in [Blnovsky et l., 2011]. Thus, we ientifie prllel evolution of genes n lnguges

in the Cucsus.

To explin this coevolution we suggeste the following moel. The Cucsin popultions

originte from common root (protopopultion) tht split into ughter popultions which

went on to occupy ifferent prts of the Cucsus; there they lter split into “grnughter”

popultions, n so on. These population events lso cuse the split of lnguges, so tht the

tree of popultion splits becme the tree of the North Cucsin linguistic fmily. Thesepopultion events lso llowe ech popultion to ccumulte its own specific clusters of

hplotypes. In other wors, the moel implies tht popultion history ws reflecte in two

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Oleg Balanovsky, Olga Utevska, Elena Balanovska

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mirrors — the linguistic n the genetic one. Becuse (i) this popultion history in moun

tinous region ws not too strongly blurre by migrtions n (ii) both “mirrors” were bse

on n extensive tset n nlyze by equte methos, both reflections coincie.

The importnt conclusion is tht in other regions of the worl n other linguistic fmilies

one cn lso expect similrity between genetic n linguistic t. However, even proviing

this similrity exists in nture, to see it in reserch t three importnt conitions shoul be

met: (i) genetic nlysis is one properly; (ii) linguistic nlysis is one properly; (iii) the

popultion history i not inclue elite ominnce or other events tht re visible in one “mir

ror” but not visible in nother.

This is why we hve inclue here this brief escription of the stuy of North Cucsin

popultions here: for the InoEuropen cse, it provies the bsic moel n comprison

point. However, one coul hrly expect tht InoEuropen popultions followe this moel

with the sme precision s those in the North Cucsus.

Correlation of genes and languages

We o not expect tht the history of InoEuropens followe the sme cler moel s tht of

the North Cucsins. It is therefore even more interesting to pply the sme methoology to

the IE cse. So fr, we hve performe only one, but the most importnt kin of nlysis — the

correltion nlysis of genetic, linguistic n geogrphic istnces between the InoEuropen

popultions of Europe. (We i not inclue InoIrnin popultions becuse the Inin gene

pool is much too ifferent from the Europen one). This kin of nlysis h lrey been per

forme erlier, in 2000 [Rosser et l., 2000], where it ws foun tht both correltions re bout

r = 0.3. Twelve yers lter we repete this nlysis using tset tht ws ten times s lrge

(Tble 1). We foun correltions tht were twice s high (0.67 between genetics n linguisticsn 0.70 between genetics n geogrphy). In contrst with the cse of the Cucsus, the pr

til correltion inictes more importnt role of geogrphy (genetics n geogrphy r = 0.32,

while genetics n linguistics only r = 0.21). However, the high pir correltion with linguistics

(r = 0.67) llows to use the sttisticl t s goo preictors of genetic similrity between

popultions.

Of course, the single correltion coefficient oes not tell much bout the InoEuropen

homeln or their migrtions. To stuy them from the genetic point of view, we shoul tke

look t the overll gene pool structure.

Indo-European gene pool:

the obvious geographic patterns, the hidden language parallels

Genetic stuies of the Eursin popultions resulte in generl greement on the min pt

terns of the gene pool. It becme cler tht popultions t the extremes of the InoEuropen

re hve little in common geneticlly (like Western Europe vs Ini, or Scninvi vs Arme

ni). Moreover, in mny cses IEspeking popultions re geneticlly similr to their geo

grphic nonIE neighbors; for exmple, French n Spnirs re geneticlly similr to Bsque

[MrtínezCruz et l., 2012; Behr et l., 2012], Russins to Finnish spekers [Blnovsky et l.,

2008], n Inin IE spekers to Drviin popultions [Kivisil et l., 2003]. Therefore, onemight suppose tht the elite ominnce moel h worke mny times throughout the history

of InoEuropen popultions.

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Genetics of Indo-European populations: the past, the future

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Figure 1 (adapted from Balanovsky et al., 2008). Genetic

relationships between European populations (data on

Y-chromosome). Populations of different ethnic groups

are marked by signs of different color and shape. It can

 be seen that populations cluster together according totheir language.

Figure 2. Genetic relationships between European popu

lations (data on mitochondrial DNA). It can be seen that

populations tend to cluster together according to their

language group.

On the other sie, on the smller geogrphic (n linguistic) scle similrity between

genetics n linguistics begins to pper. For exmple, Inin popultions re geneticlly

closer to the popultions of Irn thn to ny other. Another exmple is tht West n Est

Slvic popultions form genetic continuum cross their lrge re (Figure 1), which coincies

with their linguistic similrity while contricting the lrge geogrphic istnce between then.

All these exmples were bse on the Y-chromosome which generlly provies the clerest

pttern. However, t on mitochonril DNA le to similr conclusions. For exmple, Euro

pen ethnic groups form genetic clouds ccoring to their linguistic grouping (Figure 2), though

the pttern is less cler compre with the Y-chromosoml results. All of these rw very

complicte picture of geneticlinguistic interreltions mong IE popultions n emn

more etile stuies; one of the possible future stuies is escribe below.

Genetic data on Neolithization of Europe

The most elborte theory, explining the spre of InoEuropen lnguges cross Europe

n the formtion of the Europen gene pool, links both events with Neolithiztion. The minpttern in the Europen gene pool is grul chnge from the southest (Antoli, then the

Blkns) to Northwest Europe [CvlliSforz et l., 1994]. This pnEuropen genetic tren

ws first shown on clssicl genetic mrkers n ws confirme multiple times by other ge

netic systems. This geogrphic tren emonstrtes wonerful correltion with the rcheo

logicl mp of the grul istribution of frming cross Europe. This llowe to evelop the

“emic iffusion moel”, which sttes tht frming popultions (growing in numbers much

fster thn huntergthering groups) spre from Antoli, n tht ech genertion of frm

ers migrte further until they reche the geogrphic limits of the Europen subcontinent.

Ech genertion mixe with utochthonous huntergtherers, n the initil Ner Estern

gene pool grully issolve. This (geogrphiclly grul) issolution resulte in the genepool grient tht ws foun in Europen popultions [Ammermn & CvlliSforz, 1984;

CvlliSforz et l., 1994]. Mny reserchers  believe tht these frmers were InoEuropens,

BALTIC

ROMANIAN

G E  R M  A N  I  C 

SLAVONIC

CELTIC

LATVIANS

LITHUANIANS

ESTONIANS

CZECHPOLES

BYELORUSSIANS

RUSSIANS

SLOVAKS

UKRAINIANS

ALBANIANS

AROMUNS

ROMANIANS

SLOVENIANS

BOSNIANSBULGARIANS CROATIANS

HUNGARIANS

BASQUES

IRISHSCOTTISH

AUSTRIANS

ENGLISH

GERMANS

ICELANDERS

NORWAYSWEDES

SWISS

FRENCH

ITALIANS

PORTUGALS

SARDINIANS

SICILIANS

SPANIARDS

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Oleg Balanovsky, Olga Utevska, Elena Balanovska

28

Figure 3 (adapted from Haak et al., 2010). Map of genetic distances between the first Neolithic popula

tion of Europe and present day gene pools (data on mitochondrial DNA). A genetic distance map plots

genetic distances from a single selected population (reference population) to all populations of the

mapped area. It is the researcher’s choice to select the reference population. This map plots genetic dis

tances from the first widespread Neolithic culture in Europe (Linear Band Ceramic) to the present day

populations of Europe and Near East. The location of the studied ancient population is shown by the

asterisk.

n tht, therefore, the spre of frming, the spre of InoEuropen lnguges n the

formtion of the presenty Europen gene pool were three consequences of the sme popu

ltion history.

This elegnt theory ws preominnt mong geneticists in the 1970s n 1980s. But in the

ensuing two eces it ws generlly rejecte, since new t on mitochonril DNA emonstrte tht the Europen gene pool hs Pleolithic rther thn Neolithic ge [Richrs et l.,

1996; Coms et l., 1997; Torroni et l., 1998]. Of course, the “outofAntoli” tren in the

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Genetics of Indo-European populations: the past, the future

29

Europen gene pool ws still stble fct, but it ws reinterprete s the result of Pleolithic

rther thn Neolithic migrtion into Europe (both migrtion wves entere Europe through

Antoli n the Blkns). The spre of frming lso remine stble fct, but it ws re

interprete s result of “culturl iffusion” (spre of frming technology without the c

compnying spre of frmers themselves) rther thn emic iffusion.

Recently, our stuy on ncient mitochonril DNA [Hk et l., 2010] provie irect

t on ncient DNA n its comprison with t on moern DNA by mens of geogrphi

cl mp of genetic istnces. The t on ncient DNA were from the erly Neolithic Euro

pen site, while the moern DNA t covere the entire Europe n Ner Est (Figure 3). It

ws foun tht the gene pool of the erly Neolithic frmers ws rsticlly ifferent from the

moern Europen one, but showe close ffinities with the moern (n probbly ncient)

Ner Estern gene pool. One my conclue tht the irect migrtion of frmers from Antoli

to Centrl Europe i inee tke plce (s stte by Ammermn n CvlliSforz), but tht

their gene pool ws subsequently issolve mong utochthonous Europen popultions. This

is, therefore, compromise between “emic iffusion” n “culturl iffusion” moels. Of

course, we o not know whether this pttern of Neolithiztion of Europe ws inee linke

with the spre of InoEuropens; however, we o know tht no one hs so fr suggeste

 better theory, n there re no resons to bnon it.

The “genetic Indo-European” marker: myth or reality?

Since the 1990s, humn popultion genetics minly use two genetic systems: mitochonril

DNA n Y-chromosome. Within these systems, number of hplogroups ws iscovere,

mny of which hve cler ptterns of istribution cross the Erth. It becme very populr to

link the spre of every hplogroup with certin popultion events (like bck migrtion toAfric [Crucini t l., 2002], Mesolithic recoloniztion of Europe from Meiterrnen refu

gi [Torroni et l., 2001; Rootsi et l., 2004], spre of Islm [Eswrkhnth et l., 2010], n

mny others).

It is more hr, however, to fin goo “cnite” hplogroup tht woul mrk the

InoEuropen expnsion. It ws stte mny times (minly on Internet forums, but lso in

some reserch ppers) tht Y-chromosoml hplogroup R1 coul be the “InoEuropen

mrker”. Using both publishe t from vilble literture n our own unpublishe t

(523 popultions worlwie ltogether), we hve constructe the gene geogrphicl mp of

the istribution of this hplogroup cross Eursi (Figure 4). The mp shows tht (in gree

ment with the possible link with InoEuropen movements) this hplogroup is wiespre inCentrl n Est Europe, in West Centrl Asi (where the genetic legcy of Irnicspeking

Scythins hs survive) n in North Ini (prticulrly in the upper cstes). However, the

low frequency of this hplogroup in West Europe is in isgreement with the possible link

with InoEuropens. The frequency in West Europe, Armeni n Antoli (typicl Ino

Europen res) is s low s in Mongoli, which certinly ws not prt of the InoEuropen

re. The highest frequency of this hplogroup is foun in Est Slvic popultions, which

stimulte some ntionlistic ctivists to go s fr s to clim the origin of ll InoEuropen

popultions from Russins, n insist tht present y Russin people crrying the R1 hp

logroup re the most irect escennts of “ProtoInoEuropens”. This mrginl “theory”

coul hrly be clle science. But the hplogroup R1 is inee very interesting s possiblemrker of t lest some episoes of the history of IE popultions, such s their substitution by

Turkic spekers in West Centrl Asi.

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Figure 4. Map of distribution of the haplogroup R1aM198 (data on Y-chromosome).

The min problem of such n interprettion lies in genetic t on the te n plce of

origin of this hplogroup. The te is too ol, n the plce is too fr to the Est to fit ny hy

pothesis on the IE homeln tht is currently being iscusse by linguists n rcheologists.

The date is problemtic (like every genetic te) n coul esily chnge in the future. But the

most relible metho to estimte the place of the hplogroup origin (the grient of genetic iversity within the hplogroup) shows tht hplogroup R1 initilly spre  from Ini rther

thn in the opposite irection [Unerhill et l., 2010; Shrm et l., 2009; Sengupt et l., 2006].

There re other hplogroups tht coul mrk the spre of some InoEuropen

 brnches. For exmple, we foun the hplogroup G1-M285 to be wiespre in the Kzkh

cln of the  Argyns , who coul be escennts of IEspeking Sks, ssimilte by groups of

Turkic spekers in the 1st millennium ad. The sme hplogroup is lso spre in some Irnic

speking n Armeninspeking popultions, which might inicte either common origin

or intensive contcts between these popultions (Figure 5).

In generl, we believe tht the “InoEuropen mrker” oes not exist, simply becuse the

first popultion to spek ProtoInoEuropen must hve possesse spectrum of hplogroups which were shre (or ienticl) with its sister n neighbor popultions tht spoke

other lnguges. It is unlikely tht  muttion occurre exctly t the time when the first

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Figure 5. Map of distribution of the haplogroup G1-M285 (data on Y-chromosome).

ProtoInoEuropen phrse ws spoken. The muttions tht occurre erlier must hve been

shre between IE n neighboring nonIE popultions. The muttions tht occurre lter

must hve been specific for only subset of IE popultions. An this, in turn, efines the pos

sibilities for future stuies.

Possibilities for future studies

At first the progress of popultion genetics ws minly ue to the evelopment of new

concepts, pproches, n methos. Although experimentl t were, of course, n impor

tnt component of this iscipline, the riving force ws the theory. Leing reserchers of the

first perio (Sergey Chetverikov, Theoosius Dobzhnsky, Alexner Serebrovsky, Ronl

Fisher, Smuel Wright n others) n, lter, Mstoshi Nei rrive t their iscoveries

through intellectul, rther thn experimentl, mens. In the “postLysenko renissnce” of

humn popultion genetics in Russi, linke with the nme of Yuri Rychkov (n, simultneously, the seminl work of Luc CvlliSforz n his collegues in Europe), the reserch ws

lrey bse on creting tbses of humn genetic vrition; however, the nlysis of this

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Oleg Balanovsky, Olga Utevska, Elena Balanovska

32

experimentl t, its interprettion n conclusions were still bse on the evelopment of

new concepts, methos, n ies.

The present y sitution in humn popultion genetics is completely ifferent. The prog

ress in experimentl methos of DNA nlysis in the lst 10–20 yers (from RFLP nlysis to

STR nlysis to irect sequencing to next genertion sequencing, with the “thir genertion

sequencing” expecte in the very ner future) ws so fst tht, unfortuntely, scientific pro

gress becme techniclly riven rther thn intellectully riven process. Every 3–5 yers

new type of genetic systems becomes vilble. An ech kin of these mrkers hs fetures

tht look very promising. For exmple, the nonrecombintive nture of mtDNA llowe the

possibility of genetic ting; Y-chromosome llowe to trce pternl lines tht llow for pos

sible comprison with genelogies n cln ncestry legens; multiple SNP pnels llowe the

full coverge of the genome which seems to solve the problem of bise representtion of

nlyze loci.

However, rpi chnge of the genetic systems lso crete “scientific fshion”. A new

type of mrkers woul become populr simply becuse it ws fshionble, rther thn ue to

ny relly importnt vntges. Even worse is the fct tht stuies, eling with previous

type(s) of mrkers, often meet problems with being publishe in prestigious journls, only be

cuse these mrkers re “out of fshion” rther thn becuse of the stuies themselves. This

cretes proxicl sitution in which the most wiely cite ppers tht mke globl conclu

sions re often bse on wek tsets n smll smple sizes. This is becuse publishing in

prestigious journl is possible when the mrker is still “in fshion”; but t tht prticulr time

the ccumulte tset is still reltively smll. An fter mny reserchers hve worke with

the mrker n ccumulte lrge tset from ll over the worl, the mrker is lrey

“out of fshion”, so tht the ppers bse on these tsets cnnot rech high cittion level.

It seems tht, in orer to rech its full potentil in contributing towrs solving the Ino

Europen problem, humn popultion genetics nees to combine the t on ll types ofmrkers which re (n were) wiely use in popultion genetic stuies. Moreover, it is nec

essry to switch bck to the “theoreticl” style of reserch, since the problem itself is more

complicte thn simply trcing historicl migrtion. Mny geneticists in ifferent countries

coul work in these irections. Below we provie n overview of the concrete project which our

tem plns to perform in the nerest three yers. It is bse on two (rther thn “ll”) genetic

systems. It lso inclues only one new n two oler nlyticl methos. An it certinly oes

not preten to “employ the full potentil” of genetics in contributing towrs InoEuropen

stuies. However, we hope tht it might represent n importnt step in this irection.

Although there is no single genetic mrker tht coul be efinitively linke with ll Ino

Europens, there coul be sets of genetic mrkers, prtilly linke with some InoEuropen brnches. The more genetic mrkers we tke into consiertion, the higher re the chnces tht

such “subInoEuropen” mrkers might be ientifie. The present y genetic techniques

llow this pproch. For meicl genetic purposes, hunres of thousns of polymorphic

mrkers were foun in the humn genome. The metho of “genetic chips” provies the possi

 bility to check for presence or bsence of these numerous mrkers in the iniviul DNA

smple. Using this technique we pln to perform the following fivestep stuy.

Step 1: Six popultion pirs will be genotype by 130000 genetic mrkers; ech popul

tion pir inclues the IE popultion n its nonIE neighbor. These pirs re: Russins n

Krelins, Ukrinins n Nogis; Ossets n Ayghe; Armenins n Georgins; Tjiks

n Turkmens; Pomiri n Kirghiz. Three itionl pirs re lso plnne in collbortionwith foreign lbortories: French n Bsque; Irnins n Syrins, Brhmins n Drviin

popultions.

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Step 2: The genetic mrkers tht re typicl for IE popultions but not for their nonIE

neighbors will be ientifie. We o not expect to fin mrkers tht will be present in ll IE

popultions n bsent in ll nonIE groups. We o expect to fin mrkers tht re  frequent in

groups of IE popultions but rre in their nonIE “couples”. For exmple, we hope to fin

mrkers tht re present in Tjiks, Pomiri n Ossets (Irnic group) but bsent mong their

nonIE neighbors.

Step 3: Mps of sptil istribution of these mrkers will be crete, n sttisticl nly

sis of their frequencies will be performe. The results will be interprete in terms of the

popultion history of InoEuropen brnches uner stuy, incluing their migrtions,

mixture n ifferentition.

Step 4: The forml correltion nlysis will be performe between mtrices of genetic,

lexicosttisticl n geogrphicl istnces between InoEuropen popultions. Although the

“pnIE” nlysis might be noninformtive, we expect novel results from nlysis t the level

of ifferent brnches of the IE fmily, prticulrly BltoSlvic n Irnin ones.

Step 5: Out of ll the types of genetic mrkers, Y-chromosoml hplogroups hve the

highest level of interpopultion ifferentition n, therefore, hve the mximum power to

istinguish between popultions. This is prticulrly true when lrge hplogroups, spre

over vst res, re subivie into subhplogroups with geogrphiclly restricte res. We

pln to follow this pproch with the im to better trce migrtions n reconstruct t lest

some prts of the multilyer mosic of InoEuropen movements.

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О. П. БАЛАНОВСКИЙ , О. М. УТЕВСКАЯ , Е. В. БАЛАНОВСКАЯ. Молекулярногенетические исследова

ния индоевропейских популяций: прошлое и будущее.

Представлен опыт сравнения генетических и лингвистических данных в связи с индоевропейской

проблематикой. Наше сравнение генетического разнообразия и лексикостатистических данных

по северокавказским популяциям выявило параллелизм в эволюции генов и языков; можно ска

зать, что популяционная история отражается в лингвистическом и генетическом зеркалах. Для

других лингвистических семей можно ожидать такого же сходства, хотя оно и может быть искажено событиями «доминирования элиты» и другими факторами, поразному влияющими на

генный фонд и на лексический фонд. И действительно, для индоевропейских популяций Евро

пы, в отличие от Кавказа, частные корреляции выявили большую роль географического (r = 0.32),

чем лингвистического фактора (r = 0.21) в структурировании генофонда; но при этом большáя

парная корреляция (r = 0.67) между генетическими и лингвистическими расстояниями позволяет

использовать лексикостатистические данные для прогноза генетического сходства между попу

ляциями. Сходство генетических и лингвистических данных выявлено как по Y-хромосоме (по

пуляции кластеризуются по языку), так и по митохондриальной ДНК (популяции кластеризу

ются по принадлежности к языковой группе). В целом, мы считаем, что не существует одного ге

нетического маркера, вполне связанного с расселением индоевропейцев. Вместо этого, мы начи

наем новый проект, направленный на выявление групп маркеров, частично связанных с отдельными группами индоевропейцев, что позволит реконструировать некоторые части многослой

ной мозаики индоевропейских миграций.

Ключевые слова: генофонд, индоевропейские популяции, Y-хромосома.

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